Primary Small Cell Malignant Melanoma of the Rectum: Case Report of a Very Rare Tumor

Abstract

Rectal/anorectal malignant melanomas are highly aggressive tumors with a poor prognosis and low 5-year survival rate. They are also very rare. Of the well-known histological variants of malignant melanoma, the small cell subtype is also very uncommon; consequently, small cell anorectal malignant melanoma is an exceedingly rare occurrence. In this article, the authors provide a detailed clinicopathological description of small cell malignant melanoma of the rectum, documenting clinical, histological, immunohistochemical, and ultrastructural features, to add to the sparse references on this tumor in the literature. The patient was a 53-year-old woman with a mass 2 cm from the anus, which was surgically removed. In histological sections, the tumor was a small cell malignant melanoma, with a tumor cell diameter of 7.6±1.0 µm, and a range of 5.5–10.7 µm (N = 100). Tumor cells were positive for S-100 protein and HMB-45 and contained sparse but unambiguous type II melanosomes. This article is one of the few detailed clinicopathological documentations of a small cell malignant melanoma of the rectum (anorectum) and the first to have the diagnosis confirmed ultrastructurally by the identification of melanosomes. The present case adds to the 3 mainly or entirely small cell anorectal malignant melanomas described in the literature. There are also at least 12 other cases with less well-defined numbers of small tumor cells or with small cells admixed with other cell morphologies. Documentation of these unusual morphological variants is important for identifying any distinctive outcome they might exhibit compared with conventional malignant melanoma.